P2RY4 pyrimidinergic receptor P2Y4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: P2RY4provided by HGNC
Official Full Name: pyrimidinergic receptor P2Y4provided by HGNC
Primary source: HGNC:HGNC:8542
See related: Ensembl:ENSG00000186912 MIM:300038; AllianceGenome:HGNC:8542
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NRU; P2P; UNR; P2Y4
Summary: The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (70258166..70260204, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (68691490..68693528, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (69478016..69480054, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

reflected in the immunoblotting data P2RY4 receptors were detected at higher levels of expression in patient with cortical dysplasia with intractable epilepsy.
Title: Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy.
P2Y4 receptors are expressed in intracellular vesicles and sarcolemma of skeletal muscle fibers.
Title: Purinergic receptors expressed in human skeletal muscle fibres.
show that P2 receptors and protein kinases are also involved in regulating injury-induced expression and the release of TSP-1 in injured astrocytes
Title: Trauma-induced expression of astrocytic thrombospondin-1 is regulated by P2 receptors coupled to protein kinase cascades.
Nucleotide P2Y4 receptor binding is arrested in post-Golgi trafficking by type I transmembrane proteins p23 and p24A.
Title: Proteinase-activated receptors, nucleotide P2Y receptors, and μ-opioid receptor-1B are under the control of the type I transmembrane proteins p23 and p24A in post-Golgi trafficking.
Taken together, our data indicate that the high expression and activation of the P2Y4 receptor participates in the neuronal differentiation and commitment to death of SH-SY5Y cells.
Title: The metabotropic P2Y4 receptor participates in the commitment to differentiation and cell death of human neuroblastoma SH-SY5Y cells.
Activation of the human P2Y(4) receptor expressed in 1321N1 cells by UTP did not elicit this protective effect, although both receptors were coupled to phospholipase C.
Title: Tumor necrosis factor alpha-induced apoptosis in astrocytes is prevented by the activation of P2Y6, but not P2Y4 nucleotide receptors.
expression profile in human peripheral tissues and brain regions using PCR
Title: Expression pattern of human P2Y receptor subtypes: a quantitative reverse transcription-polymerase chain reaction study.
second extracellular loop and the NH(2) terminus form a functional motif that plays a key role in determining whether ATP functions as an agonist or antagonist at mammalian P2Y(4) receptors
Title: Agonist versus antagonist action of ATP at the P2Y4 receptor is determined by the second extracellular loop.
Human keratinocytes express multiple P2Y-receptors: evidence for functional P2Y1, P2Y2, and P2Y4 receptors.
Title: Human keratinocytes express multiple P2Y-receptors: evidence for functional P2Y1, P2Y2, and P2Y4 receptors.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483845

RH47039 (e-PCR)
- UniSTS:17670

P2RY4__5802 (e-PCR)
- UniSTS:463758

NoName (e-PCR)
- UniSTS:481244

RH70627 (e-PCR)
- UniSTS:74976

PMC96855P2 (e-PCR)
- UniSTS:273640

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables G protein-coupled UTP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled UTP receptor activity	TAS Traceable Author Statement more info	PubMed
enables G protein-coupled purinergic nucleotide receptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled purinergic nucleotide receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to ATP	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to prostaglandin E stimulus	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	TAS Traceable Author Statement more info	PubMed
involved_in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in transepithelial chloride transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: P2Y purinoceptor 4

Names: pyrimidinergic receptor P2Y, G-protein coupled, 4; uridine nucleotide receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013250.1 RefSeqGene

Range

4601..6639

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002565.4 → NP_002556.1 P2Y purinoceptor 4

See identical proteins and their annotated locations for NP_002556.1

Status: REVIEWED

Source sequence(s)

AL357752

Consensus CDS

CCDS14398.1

UniProtKB/Swiss-Prot

P51582, Q4VBB7, Q4VBB8, Q502W2, Q5JT22

Related

ENSP00000363643.2, ENST00000374519.4

Conserved Domains (1) summary

cd15374
Location:36 → 317

7tmA_P2Y4; P2Y purinoceptor 4, member of the class A family of seven-transmembrane G protein-coupled receptors